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Article

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Journal of medical genetics - 1 May 1993

Bonneau D, Rozet J M, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M

Abstract excerpt

X linked hereditary spastic paraplegia is a rare condition that has been divided into two forms (the pure spastic form and the complicated form) as a function of clinical course and severity. A gene for pure hereditary spastic paraplegia (SPG2) has been mapped to the proximal long arm of the X chromosome (Xq21) by linkage to the DXS17 locus, while a gene for a complicated form of the disease has been mapped to...

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Identifiers

PMID: 8320699
DOI: 10.1136/jmg.30.5.381
PMCID: PMC1016372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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